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641por Cooper-Knock, Johnathan, Harvey, Calum, Zhang, Sai, Moll, Tobias, Timpanaro, Ilia Sarah, Kenna, Kevin P., Iacoangeli, Alfredo, Veldink, Jan H“…Structural variation, somatic heterogeneity and consideration of environmental modifiers represent significant challenges which will require integration of multiple technologies and a multidisciplinary approach including clinicians, geneticists and pathologists. SUMMARY: The move away from fully penetrant Mendelian risk genes necessitates new experimental designs and new standards for validation. …”
Publicado 2021
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642por Mansoori, Ghadeera Al, Mahmeed, Wael Al, Wani, Saleema, Salih, Bashir Taha, Ansari, Tarek El, Farook, Fathima, Farooq, Zenab, Khair, Howaida, Zaręba, Kornelia, Dhahouri, Nahid Al, Raj, Anjana, Foo, Roger S., Ali, Bassam R., Jasmi, Fatma Al, Akawi, Nadia“…Central to our study is an emphasis on the importance of implementing a multidisciplinary approach that involves the collaboration of obstetricians, cardiologists, geneticists, and other healthcare professionals to ensure that patients receive comprehensive and coordinated care. …”
Publicado 2023
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643“…The couple finally decided to terminate the pregnancy after genetic counseling by hospital geneticists due to the uncertainty of the occurrence of HDGC in the future. …”
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644por Seppälä, T T, Latchford, A, Negoi, I, Sampaio Soares, A, Jimenez‐Rodriguez, R, Sánchez‐Guillén, L, Evans, D G, Ryan, N, Crosbie, E J, Dominguez‐Valentin, M, Burn, J, Kloor, M, von Knebel Doeberitz, M, van Duijnhoven, F J B, Quirke, P, Sampson, J R, Møller, P, Möslein, G“…METHODS: The European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) developed a multidisciplinary working group consisting of surgeons, clinical and molecular geneticists, pathologists, epidemiologists, gastroenterologists, and patient representation to conduct a graded evidence review. …”
Publicado 2021
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645Publicado 2019“…Using the genetic database of blood groups and other protein polymorphisms, anthropological geneticists started redrawing the ancient migratory history of human populations. …”
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646“…SUMMARY: Quantifying genetic clusters (=populations) from genotypic data is a fundamental, but non-trivial task for population geneticists that is compounded by: hierarchical population structure, diverse analytical methods, and complex software dependencies. …”
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647por Wishart, David S., Tzur, Dan, Knox, Craig, Eisner, Roman, Guo, An Chi, Young, Nelson, Cheng, Dean, Jewell, Kevin, Arndt, David, Sawhney, Summit, Fung, Chris, Nikolai, Lisa, Lewis, Mike, Coutouly, Marie-Aude, Forsythe, Ian, Tang, Peter, Shrivastava, Savita, Jeroncic, Kevin, Stothard, Paul, Amegbey, Godwin, Block, David, Hau, David. D., Wagner, James, Miniaci, Jessica, Clements, Melisa, Gebremedhin, Mulu, Guo, Natalie, Zhang, Ying, Duggan, Gavin E., MacInnis, Glen D., Weljie, Alim M., Dowlatabadi, Reza, Bamforth, Fiona, Clive, Derrick, Greiner, Russ, Li, Liang, Marrie, Tom, Sykes, Brian D., Vogel, Hans J., Querengesser, Lori“…The HMDB is designed to address the broad needs of biochemists, clinical chemists, physicians, medical geneticists, nutritionists and members of the metabolomics community. …”
Publicado 2007
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648por Pradhan, Sanchari, Sengupta, Mainak, Dutta, Anirban, Bhattacharyya, Kausik, Bag, Sumit K., Dutta, Chitra, Ray, Kunal“…The IGDD web portal, planned to be made freely available, contains user-friendly interfaces and is expected to be highly useful to the geneticists, clinicians, biologists and patient support groups of various genetic diseases.…”
Publicado 2011
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649por Diniz-Filho, José Alexandre Felizola, Nabout, João Carlos, de Campos Telles, Mariana Pires, Soares, Thannya Nascimento, Rangel, Thiago Fernando L. V. B.“…In general, we hope that our review of commonly used spatial regression techniques in biology and ecology may aid population geneticists towards providing better explanations for population structures dealing with more complex regression problems throughout geographic space.…”
Publicado 2009
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650“…The availability of a large number of bacterial genomes allows geneticists to use complete genomes (possibly from the same species) as templates for contigs mapping. …”
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651“…Basic researchers, ophthalmologists, diabetologists and geneticists should work together in order to gain new insights into this issue.…”
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652“…Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country.…”
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653por Lee, Hangnoh, Cho, Dong-Yeon, Whitworth, Cale, Eisman, Robert, Phelps, Melissa, Roote, John, Kaufman, Thomas, Cook, Kevin, Russell, Steven, Przytycka, Teresa, Oliver, Brian“…Deletions, commonly referred to as deficiencies by Drosophila geneticists, are valuable tools for mapping genes and for genetic pathway discovery via dose-dependent suppressor and enhancer screens. …”
Publicado 2016
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654por Hinton, Robert B., McBride, Kim L., Bleyl, Steven B., Bowles, Neil E., Border, William L., Garg, Vidu, Smolarek, Teresa A., Lalani, Seema R., Ware, Stephanie M.“…To address these knowledge gaps, we have developed the Cytogenomics of Cardiovascular Malformations (CCVM) Consortium, a multi-site alliance of geneticists and cardiologists, contributing to a database registry of submicroscopic genetic copy number variants (CNVs) based on clinical chromosome microarray testing in individuals with CVMs using detailed classification schemes. …”
Publicado 2015
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655por Skinner, Debra, Roche, Myra I., Weck, Karen E., Raspberry, Kelly A., Foreman, A. Katherine M., Strande, Natasha T., Berg, Jonathan S., Evans, James P., Henderson, Gail E.“…RESULTS: Participants understood their uncertain results in ways that were congruent with clinical geneticists’ communications. They followed recommendations for further consultation, although family testing to resolve uncertainty was not always done. …”
Publicado 2017
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656por Caridi, Gianluca, Trivelli, Antonella, Sanna-Cherchi, Simone, Perfumo, Francesco, Ghiggeri, Gian Marco“…The final objective of this review is to outline a diagnostic flow-chart for clinicians and geneticists and to generate a rational scheme for molecular testing.…”
Publicado 2010
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657por Zanolla, Thais Arbocese, Perrone, Eduardo, Fock, Rodrigo Ambrosio, Bordini, Daniela, Brentani, Helena Paula, Perez, Ana Beatriz Alvarez, Brunoni, Decio“…The sample included 62 children from a published multicenter study, with intelligence quotient between 50–69, of both genders, with chronological age between 3–6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. …”
Publicado 2020
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658por Aguilera-Diaz, Almudena, Vazquez, Iria, Ariceta, Beñat, Mañú, Amagoia, Blasco-Iturri, Zuriñe, Palomino-Echeverría, Sara, Larrayoz, María José, García-Sanz, Ramón, Prieto-Conde, María Isabel, del Carmen Chillón, María, Alfonso-Pierola, Ana, Prosper, Felipe, Fernandez-Mercado, Marta, Calasanz, María José“…Variants were classified by two geneticists based on their clinical relevance in MN. …”
Publicado 2020
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659por Rheault, Michelle N., Savige, Judith, Randles, Michael J., Weinstock, André, Stepney, Melissa, Turner, A Neil, Parziale, Gina, Gross, Oliver, Flinter, Frances A, Miner, Jeffrey H, Lagas, Sharon, Gear, Susie, Lennon, Rachel“…More than 80 international experts including clinicians, geneticists, researchers from academia and industry, and patient representatives took part in panel discussions and breakout groups. …”
Publicado 2019
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660“…Although many patients with this anomaly may be well known to geneticists, a child may be referred to a plastic surgeon for reconstruction of what is thought to be an isolated cosmetic or local functional issue. …”
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